#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PPP1R3A	5506	broad.mit.edu	37	7	113519011	113519011	+	Silent	SNP	T	T	C			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:113519011T>C	ENST00000284601.3	-	4	2204	c.2136A>G	c.(2134-2136)gaA>gaG	p.E712E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	712					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAGAAGACAGTTCACAGCACA	0.403																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2134-2136)gaA>gaG		protein phosphatase 1, regulatory subunit 3A							203.0	197.0	199.0					7																	113519011		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519011T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2136A>G	7.37:g.113519011T>C							p.E712E	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2204	-			712					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.2136A>G	CCDS5759.1																																																																																				0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		24	156	0	0	0	1	0	24	156				
MRGPRX1	259249	broad.mit.edu	37	11	18956230	18956230	+	Silent	SNP	C	C	T	rs144203919	byFrequency	TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr11:18956230C>T	ENST00000302797.3	-	1	326	c.102G>A	c.(100-102)acG>acA	p.T34T	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	34					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAACGATGCACGTCAGCACCG	0.547													C|||	4	0.000798722	0.0	0.0029	5008	,	,		26258	0.0		0.002	False		,,,				2504	0.0					ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(100-102)acG>acA		MAS-related GPR, member X1		C		1,4387		0,1,2193	218.0	205.0	209.0		102	-2.1	0.0	11	dbSNP_134	209	29,8543		0,29,4257	no	coding-synonymous	MRGPRX1	NM_147199.3		0,30,6450	TT,TC,CC		0.3383,0.0228,0.2315		34/323	18956230	30,12930	2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956230C>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.102G>A	11.37:g.18956230C>T						MRGPRX1_ENST00000526914.1_5'UTR	p.T34T	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	326	-			34					Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.102G>A	CCDS7846.1																																																																																				0.547	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		27	174	0	0	0	1	0	27	174				
TTLL2	83887	broad.mit.edu	37	6	167754428	167754428	+	Missense_Mutation	SNP	G	G	A	rs556516360		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr6:167754428G>A	ENST00000239587.5	+	3	1128	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	347	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AAAATCCACCGCATGGTTATT	0.443																																						ENST00000239587.5																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1039-1041)cGc>cAc		tubulin tyrosine ligase-like family, member 2							214.0	219.0	217.0					6																	167754428		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754428G>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1040G>A	6.37:g.167754428G>A	ENSP00000239587:p.Arg347His						p.R347H	NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1128	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	347			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.1040G>A	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.713571	0.00706	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.08193	3.12	3.75	-7.5	0.01351	.	1.733100	0.03322	N	0.192033	T	0.00967	0.0032	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.34825	-0.9813	10	0.23891	T	0.37	.	4.8116	0.13345	0.6668:0.083:0.1676:0.0826	.	347	Q9BWV7	TTLL2_HUMAN	H	347;274	ENSP00000239587:R347H	ENSP00000239587:R347H	R	+	2	0	TTLL2	167674418	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.079000	0.11357	-3.397000	0.00171	-1.282000	0.01380	CGC		0.443	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		17	195	0	0	0	1	0	17	195				
PCDHB12	56124	broad.mit.edu	37	5	140590067	140590067	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr5:140590067C>T	ENST00000239450.2	+	1	1777	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R193C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCAGTTCCGCGTGGGCGC	0.677																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1588-1590)Cgc>Tgc									65.0	71.0	69.0					5																	140590067		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590067C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1588C>T	5.37:g.140590067C>T	ENSP00000239450:p.Arg530Cys					PCDHB12_ENST00000541609.1_Missense_Mutation_p.R193C	p.R530C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1777	+			530			Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1588C>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	7.187	0.590694	0.13812	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.01767	4.65;4.65	3.41	-6.81	0.01704	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01835	0.0058	L	0.55103	1.725	0.09310	N	1	B	0.22276	0.067	B	0.24269	0.052	T	0.45249	-0.9274	9	0.54805	T	0.06	.	3.4651	0.07547	0.1552:0.261:0.4232:0.1606	.	530	Q9Y5F1	PCDBC_HUMAN	C	193;530;150	ENSP00000440199:R193C;ENSP00000239450:R530C	ENSP00000239450:R530C	R	+	1	0	PCDHB12	140570251	0.000000	0.05858	0.274000	0.24659	0.634000	0.38068	-7.024000	0.00046	-1.050000	0.03230	0.485000	0.47835	CGC		0.677	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		22	59	0	0	0	1	0	22	59				
HAUS7	55559	broad.mit.edu	37	X	152721738	152721738	+	Missense_Mutation	SNP	G	G	C	rs200218264		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chrX:152721738G>C	ENST00000370211.4	-	7	763	c.720C>G	c.(718-720)caC>caG	p.H240Q	TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.H240Q|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000421080.2_Missense_Mutation_p.H101Q|TREX2_ENST00000370232.1_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	240					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TTCTAAGCGCGTGCAACTTGG	0.632																																						ENST00000421080.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						c.(301-303)caC>caG		HAUS augmin-like complex, subunit 7							74.0	64.0	67.0					X																	152721738		2203	4300	6503	SO:0001583	missense	55559				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	g.chrX:152721738G>C	AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"""HAUS augmin-like complex subunits"""	32979	protein-coding gene	gene with protein product	"""UCH37 interacting protein 1"", ""26S proteasome-associated UCH interacting protein 1"""	300540	"""UCHL5 interacting protein"""	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.720C>G	X.37:g.152721738G>C	ENSP00000359230:p.His240Gln					TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.H240Q|HAUS7_ENST00000370211.4_Missense_Mutation_p.H230Q|HAUS7_ENST00000370219.3_Missense_Mutation_p.H240Q|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000334497.2_5'UTR	p.H101Q			Q99871	HAUS7_HUMAN			9	1469	-			240					B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Missense_Mutation	SNP	ENST00000370211.4	37	c.303C>G	CCDS35438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.003|0.003	-2.431135|-2.431135	0.00184|0.00184	.|.	.|.	ENSG00000213397|ENSG00000213397	ENST00000370211;ENST00000370219;ENST00000421080;ENST00000370212|ENST00000435662	T;T;T;T|.	0.20881|.	2.04;2.04;2.04;2.04|.	3.89|3.89	1.14|1.14	0.20703|0.20703	.|.	0.698993|.	0.13328|.	N|.	0.396188|.	T|T	0.04634|0.04634	0.0126|0.0126	N|N	0.00138|0.00138	-2.015|-2.015	0.09310|0.09310	N|N	1|1	B;B|.	0.12013|.	0.001;0.005|.	B;B|.	0.10450|.	0.0;0.005|.	T|T	0.40739|0.40739	-0.9547|-0.9547	10|5	0.12766|.	T|.	0.61|.	-4.7054|-4.7054	6.0594|6.0594	0.19828|0.19828	0.3806:0.4357:0.1837:0.0|0.3806:0.4357:0.1837:0.0	.|.	240;240|.	Q99871;Q99871-2|.	HAUS7_HUMAN;.|.	Q|R	230;240;101;240|24	ENSP00000359230:H230Q;ENSP00000359239:H240Q;ENSP00000395447:H101Q;ENSP00000359231:H240Q|.	ENSP00000359230:H230Q|.	H|T	-|-	3|2	2|0	HAUS7|HAUS7	152374932|152374932	0.022000|0.022000	0.18835|0.18835	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.429000|0.429000	0.21412|0.21412	0.120000|0.120000	0.18254|0.18254	-3.796000|-3.796000	0.00020|0.00020	CAC|ACG		0.632	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2	NM_017518		9	26	0	0	0	1	0	9	26				
PEX5L	51555	broad.mit.edu	37	3	179529651	179529651	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr3:179529651C>A	ENST00000467460.1	-	11	1422	c.1092G>T	c.(1090-1092)caG>caT	p.Q364H	PEX5L_ENST00000263962.8_Missense_Mutation_p.Q362H|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.Q172H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Q256H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q321H|PEX5L_ENST00000485199.1_Missense_Mutation_p.Q329H|PEX5L_ENST00000472994.1_Missense_Mutation_p.Q305H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q256H|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q340H	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	364					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCCCGAGGAACTGCCATGCCT	0.468																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1090-1092)caG>caT		peroxisomal biogenesis factor 5-like							154.0	145.0	148.0					3																	179529651		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179529651C>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1092G>T	3.37:g.179529651C>A	ENSP00000419975:p.Gln364His					PEX5L_ENST00000485199.1_Missense_Mutation_p.Q329H|PEX5L_ENST00000472994.1_Missense_Mutation_p.Q305H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q321H|PEX5L_ENST00000468741.1_Missense_Mutation_p.Q172H|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q340H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q256H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Q256H|PEX5L_ENST00000263962.8_Missense_Mutation_p.Q362H	p.Q364H	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		11	1422	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		364					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1092G>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162259	0.57368	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	5.41	1.49	0.22878	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.123875	0.56097	N	0.000030	T	0.75953	0.3920	M	0.83012	2.62	0.53688	D	0.99997	B;B;D;D;D;D	0.89917	0.009;0.005;1.0;0.999;0.998;0.999	B;B;D;D;D;D	0.77557	0.01;0.01;0.99;0.967;0.952;0.98	T	0.74922	-0.3499	10	0.87932	D	0	-14.8526	7.8834	0.29635	0.0:0.6787:0.1181:0.2031	.	305;340;256;362;329;364	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	H	364;362;329;362;256;172;321;252;305;256;340	ENSP00000419975:Q364H;ENSP00000263962:Q362H;ENSP00000418440:Q329H;ENSP00000376420:Q256H;ENSP00000418665:Q172H;ENSP00000420555:Q321H;ENSP00000418054:Q305H;ENSP00000417270:Q256H;ENSP00000419348:Q340H	ENSP00000263962:Q362H	Q	-	3	2	PEX5L	181012345	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	2.085000	0.41634	0.325000	0.23359	-0.142000	0.14014	CAG		0.468	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		9	65	1	0	1.58986e-06	1	1.65101e-06	9	65				
IGSF3	3321	broad.mit.edu	37	1	117150673	117150673	+	Silent	SNP	G	G	A	rs370839007		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr1:117150673G>A	ENST00000369486.3	-	5	1878	c.1113C>T	c.(1111-1113)agC>agT	p.S371S	IGSF3_ENST00000369483.1_Silent_p.S371S|IGSF3_ENST00000318837.6_Silent_p.S371S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	371	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGTATTTCCCGCTATCTTCCT	0.537																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1111-1113)agC>agT		immunoglobulin superfamily, member 3		G	,	0,4406		0,0,2203	61.0	64.0	63.0		1113,1113	-5.1	0.2	1		63	1,8593	2.2+/-6.3	0,1,4296	no	coding-synonymous,coding-synonymous	IGSF3	NM_001007237.1,NM_001542.2	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	371/1195,371/1215	117150673	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117150673G>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1113C>T	1.37:g.117150673G>A						IGSF3_ENST00000369483.1_Silent_p.S371S|IGSF3_ENST00000318837.6_Silent_p.S371S	p.S371S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1878	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	371			Ig-like C2-type 3.		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.1113C>T	CCDS30813.1																																																																																				0.537	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		19	93	0	0	0	1	0	19	93				
CRIPAK	285464	broad.mit.edu	37	4	1389214	1389214	+	Silent	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr4:1389214C>T	ENST00000324803.4	+	1	3875	c.915C>T	c.(913-915)tgC>tgT	p.C305C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	305					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTCACACGTGCCGACGTGGAG	0.662																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(913-915)tgC>tgT		cysteine-rich PAK1 inhibitor							146.0	148.0	147.0					4																	1389214		2203	4300	6503	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389214C>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.915C>T	4.37:g.1389214C>T							p.C305C	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3875	+			305					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.915C>T	CCDS3349.1																																																																																				0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		5	228	0	0	0	1	0	5	228				
MUC17	140453	broad.mit.edu	37	7	100680623	100680623	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:100680623C>T	ENST00000306151.4	+	3	5990	c.5926C>T	c.(5926-5928)Cca>Tca	p.P1976S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1976	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCCCAGC	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5926-5928)Cca>Tca		mucin 17, cell surface associated							276.0	267.0	270.0					7																	100680623		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680623C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5926C>T	7.37:g.100680623C>T	ENSP00000302716:p.Pro1976Ser						p.P1976S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5990	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1976			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5926C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.947	-0.217494	0.06101	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.512	0.512	0.16994	.	.	.	.	.	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.48647	-0.9017	9	0.16420	T	0.52	.	6.9006	0.24281	0.0:0.9998:0.0:2.0E-4	.	1976	Q685J3	MUC17_HUMAN	S	1976	ENSP00000302716:P1976S	ENSP00000302716:P1976S	P	+	1	0	MUC17	100467343	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-1.589000	0.02104	0.551000	0.29008	0.134000	0.15878	CCA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	362	0	0	0	1	0	6	362				
OR51L1	119682	broad.mit.edu	37	11	5020428	5020428	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr11:5020428C>A	ENST00000321543.1	+	1	216	c.216C>A	c.(214-216)gaC>gaA	p.D72E		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTGAATGACCTGGGGATGT	0.453																																						ENST00000321543.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31						c.(214-216)gaC>gaA		olfactory receptor, family 51, subfamily L, member 1							198.0	169.0	179.0					11																	5020428		2201	4298	6499	SO:0001583	missense	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020428C>A	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.216C>A	11.37:g.5020428C>A	ENSP00000322156:p.Asp72Glu						p.D72E	NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	216	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	72					Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.216C>A	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518973	0.44866	.	.	ENSG00000176798	ENST00000321543	T	0.66460	-0.21	5.57	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.165824	0.29080	N	0.013215	T	0.78824	0.4344	M	0.78916	2.43	0.22803	N	0.998711	D	0.64830	0.994	D	0.72625	0.978	T	0.68191	-0.5474	10	0.51188	T	0.08	.	9.7796	0.40640	0.1395:0.7862:0.0:0.0743	.	72	Q8NGJ5	O51L1_HUMAN	E	72	ENSP00000322156:D72E	ENSP00000322156:D72E	D	+	3	2	OR51L1	4977004	0.858000	0.29795	1.000000	0.80357	0.400000	0.30750	1.191000	0.32138	1.548000	0.49413	0.650000	0.86243	GAC		0.453	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		4	148	1	0	0.150653	1	0.153496	4	148				
STK33	65975	broad.mit.edu	37	11	8435222	8435222	+	Silent	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr11:8435222C>T	ENST00000447869.1	-	11	2082	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S	STK33_ENST00000396672.1_Silent_p.S388S|STK33_ENST00000534493.1_Silent_p.S347S|STK33_ENST00000358872.3_Silent_p.S201S|STK33_ENST00000315204.1_Silent_p.S388S|STK33_ENST00000396673.1_Intron|STK33_ENST00000473980.1_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	388					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTGGTCTCACCGAAGAAAGTT	0.368																																						ENST00000447869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23						c.(1162-1164)tcG>tcA		serine/threonine kinase 33							148.0	133.0	138.0					11																	8435222		2201	4296	6497	SO:0001819	synonymous_variant	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8435222C>T	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1164G>A	11.37:g.8435222C>T						STK33_ENST00000534493.1_Silent_p.S347S|STK33_ENST00000396672.1_Silent_p.S388S|STK33_ENST00000396673.1_Intron|STK33_ENST00000358872.3_Silent_p.S201S|STK33_ENST00000315204.1_Silent_p.S388S|STK33_ENST00000473980.1_5'UTR	p.S388S			Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	11	2082	-			388					Q658S6|Q8NEF5	Silent	SNP	ENST00000447869.1	37	c.1164G>A	CCDS7789.1																																																																																				0.368	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		6	58	0	0	0	1	0	6	58				
CACNA1S	779	broad.mit.edu	37	1	201046206	201046206	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr1:201046206G>A	ENST00000362061.3	-	12	1895	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R557C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	557					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGATGGAGCGGATGGAGTTG	0.582																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1669-1671)Cgc>Tgc		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						117.0	108.0	111.0					1																	201046206		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046206G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1669C>T	1.37:g.201046206G>A	ENSP00000355192:p.Arg557Cys					CACNA1S_ENST00000367338.3_Missense_Mutation_p.R557C	p.R557C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	1895	-			557					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1669C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800397	0.90538	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97710	-4.5;-4.5	4.45	4.45	0.53987	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99818	1.1045	10	0.87932	D	0	.	17.4435	0.87572	0.0:0.0:1.0:0.0	.	557	Q13698	CAC1S_HUMAN	C	557	ENSP00000355192:R557C;ENSP00000356307:R557C	ENSP00000355192:R557C	R	-	1	0	CACNA1S	199312829	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.665000	0.74442	2.189000	0.69895	0.549000	0.68633	CGC		0.582	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		3	47	0	0	0	1	0	3	47				
KCNH7	90134	broad.mit.edu	37	2	163291772	163291772	+	Silent	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr2:163291772G>A	ENST00000332142.5	-	8	1989	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	KCNH7_ENST00000328032.4_Silent_p.F623F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	630					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.F630F(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACACATTCCCGAATCCTACAC	0.383																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Substitution - coding silent(1)	p.F630F(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1888-1890)ttC>ttT		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						170.0	156.0	161.0					2																	163291772		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163291772G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1890C>T	2.37:g.163291772G>A						KCNH7_ENST00000328032.4_Silent_p.F623F	p.F630F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			8	1989	-			630					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.1890C>T	CCDS2219.1																																																																																				0.383	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		14	65	0	0	0	1	0	14	65				
BSN	8927	broad.mit.edu	37	3	49698533	49698533	+	Silent	SNP	C	C	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr3:49698533C>A	ENST00000296452.4	+	6	9369	c.9255C>A	c.(9253-9255)ggC>ggA	p.G3085G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3085					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTACCCTGGCCCCAGCACGT	0.652																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(9253-9255)ggC>ggA		bassoon presynaptic cytomatrix protein							23.0	24.0	24.0					3																	49698533		2203	4297	6500	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49698533C>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9255C>A	3.37:g.49698533C>A							p.G3085G	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	9369	+			3085					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.9255C>A	CCDS2800.1																																																																																				0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		3	23	1	0	1	1	1	3	23				
NR1D1	9572	broad.mit.edu	37	17	38252764	38252764	+	Missense_Mutation	SNP	C	C	T	rs201321469		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr17:38252764C>T	ENST00000246672.3	-	4	1166	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	179	Crucial for activation of GJA1. {ECO:0000250}.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GCGATTGATGCGGACGATGGA	0.552																																						ENST00000246672.3																			0				endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11						c.(535-537)cGc>cAc		nuclear receptor subfamily 1, group D, member 1							145.0	125.0	132.0					17																	38252764		2203	4300	6503	SO:0001583	missense	9572				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38252764C>T	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.536G>A	17.37:g.38252764C>T	ENSP00000246672:p.Arg179His						p.R179H	NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN			4	1166	-	Colorectal(19;0.000442)		179					Q0P5Z4|Q15304	Missense_Mutation	SNP	ENST00000246672.3	37	c.536G>A	CCDS11361.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241725	0.95272	.	.	ENSG00000126368	ENST00000246672	D	0.97598	-4.45	4.75	4.75	0.60458	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.168747	0.36303	N	0.002665	D	0.98308	0.9439	M	0.83118	2.625	0.58432	D	0.999999	D	0.76494	0.999	D	0.68039	0.955	D	0.99316	1.0905	10	0.87932	D	0	.	16.66	0.85238	0.0:1.0:0.0:0.0	.	179	P20393	NR1D1_HUMAN	H	179	ENSP00000246672:R179H	ENSP00000246672:R179H	R	-	2	0	NR1D1	35506290	1.000000	0.71417	0.972000	0.41901	0.841000	0.47740	7.595000	0.82710	2.455000	0.83008	0.313000	0.20887	CGC		0.552	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			3	47	0	0	0	1	0	3	47				
ADCK2	90956	broad.mit.edu	37	7	140373323	140373323	+	Silent	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:140373323C>T	ENST00000072869.4	+	1	371	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	ADCK2_ENST00000476491.1_Silent_p.L65L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	65						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CCCTGACGTTCTGAGTCGGCG	0.726																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(193-195)Ctg>Ttg		aarF domain containing kinase 2							14.0	16.0	16.0					7																	140373323		2189	4279	6468	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373323C>T	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.193C>T	7.37:g.140373323C>T						ADCK2_ENST00000476491.1_Silent_p.L65L	p.L65L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			1	371	+	Melanoma(164;0.00956)		65					Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.193C>T	CCDS5861.1																																																																																				0.726	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		4	16	0	0	0	1	0	4	16				
PHF23	79142	broad.mit.edu	37	17	7140074	7140074	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr17:7140074G>A	ENST00000320316.3	-	4	398	c.172C>T	c.(172-174)Cca>Tca	p.P58S	PHF23_ENST00000576955.1_5'UTR|DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000454255.2_Missense_Mutation_p.P54S|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000571362.1_Intron|PHF23_ENST00000570753.1_5'UTR	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	58							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CCAGAGGCTGGCCAGTCACTT	0.567																																						ENST00000320316.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(172-174)Cca>Tca		PHD finger protein 23							42.0	47.0	45.0					17																	7140074		1911	4141	6052	SO:0001583	missense	79142						zinc ion binding	g.chr17:7140074G>A	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.172C>T	17.37:g.7140074G>A	ENSP00000322579:p.Pro58Ser					PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000571362.1_Intron|PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000454255.2_Missense_Mutation_p.P54S	p.P58S	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN			4	398	-			58					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.172C>T	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808860	0.31961	.	.	ENSG00000040633	ENST00000320316;ENST00000454255;ENST00000043410	T;T	0.34275	1.39;1.37	4.8	4.8	0.61643	.	0.068168	0.64402	D	0.000010	T	0.26991	0.0661	L	0.29908	0.895	0.36235	D	0.852875	B	0.28324	0.207	B	0.27262	0.078	T	0.24154	-1.0168	10	0.30854	T	0.27	-6.3149	13.2294	0.59933	0.0:0.0:1.0:0.0	.	58	Q9BUL5	PHF23_HUMAN	S	58;54;58	ENSP00000322579:P58S;ENSP00000414607:P54S	ENSP00000043410:P58S	P	-	1	0	PHF23	7080798	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.796000	0.38794	2.488000	0.83962	0.557000	0.71058	CCA		0.567	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		3	40	0	0	0	1	0	3	40				
ITIH4	3700	broad.mit.edu	37	3	52857696	52857696	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr3:52857696T>C	ENST00000266041.4	-	11	1511	c.1415A>G	c.(1414-1416)aAt>aGt	p.N472S	ITIH4_ENST00000406595.1_Missense_Mutation_p.N472S|ITIH4_ENST00000467462.1_5'UTR|ITIH4_ENST00000485816.1_Missense_Mutation_p.N472S|ITIH4_ENST00000346281.5_Missense_Mutation_p.N472S|ITIH4_ENST00000434759.3_Missense_Mutation_p.N384S|ITIH4-AS1_ENST00000478366.1_RNA|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	472					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTCCACGGCATTGCTTGGGTA	0.582																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1414-1416)aAt>aGt		inter-alpha-trypsin inhibitor heavy chain family, member 4							112.0	110.0	110.0					3																	52857696		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52857696T>C	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1415A>G	3.37:g.52857696T>C	ENSP00000266041:p.Asn472Ser					ITIH4_ENST00000346281.5_Missense_Mutation_p.N472S|ITIH4_ENST00000485816.1_Missense_Mutation_p.N472S|ITIH4_ENST00000434759.3_Missense_Mutation_p.N384S|ITIH4_ENST00000406595.1_Missense_Mutation_p.N472S|ITIH4_ENST00000467462.1_5'UTR	p.N472S	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	11	1511	-			472					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.1415A>G	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.955794	0.34471	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	4.56	3.39	0.38822	.	0.308221	0.26397	N	0.024606	T	0.26048	0.0635	M	0.62154	1.92	0.80722	D	1	D;D;D;P	0.61080	0.989;0.989;0.989;0.617	P;P;P;P	0.57101	0.813;0.813;0.813;0.496	T	0.00878	-1.1530	10	0.72032	D	0.01	-10.945	9.7655	0.40559	0.0:0.0839:0.0:0.916	.	472;472;472;472	E9PGN5;B7ZKJ8;Q14624;Q14624-2	.;.;ITIH4_HUMAN;.	S	472;472;472;472;460;384	ENSP00000266041:N472S;ENSP00000340520:N472S;ENSP00000417824:N472S;ENSP00000384425:N472S;ENSP00000440036:N384S	ENSP00000266041:N472S	N	-	2	0	ITIH4	52832736	0.799000	0.28903	0.049000	0.19019	0.018000	0.09664	2.002000	0.40835	0.602000	0.29896	-0.441000	0.05720	AAT		0.582	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		11	73	0	0	0	1	0	11	73				
MPHOSPH9	10198	broad.mit.edu	37	12	123661278	123661278	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr12:123661278G>A	ENST00000606320.1	-	16	2619	c.2413C>T	c.(2413-2415)Ctt>Ttt	p.L805F	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L775F|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L653F			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	805						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTATGACGAAGGCTTAACATA	0.323																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(2413-2415)Ctt>Ttt		M-phase phosphoprotein 9							123.0	118.0	120.0					12																	123661278		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123661278G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2413C>T	12.37:g.123661278G>A	ENSP00000475489:p.Leu805Phe					MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L775F	p.L805F			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	16	2619	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		653					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2413C>T		.	.	.	.	.	.	.	.	.	.	G	13.72	2.322708	0.41096	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.35789	1.29;1.3	5.0	4.1	0.47936	.	0.381193	0.24920	N	0.034560	T	0.36552	0.0971	M	0.63843	1.955	0.43628	D	0.996018	B	0.27498	0.18	B	0.33254	0.16	T	0.21348	-1.0248	10	0.51188	T	0.08	-5.3398	8.1223	0.30978	0.0856:0.1607:0.7537:0.0	.	653	Q99550	MPP9_HUMAN	F	653	ENSP00000303597:L653F;ENSP00000445859:L653F	ENSP00000303597:L653F	L	-	1	0	MPHOSPH9	122227231	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.133000	0.31430	1.073000	0.40885	0.491000	0.48974	CTT		0.323	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			8	66	0	0	0	1	0	8	66				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			4	74	0	0	0	1	0	4	74				
FBN3	84467	broad.mit.edu	37	19	8137034	8137034	+	Silent	SNP	C	C	T	rs144060152		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr19:8137034C>T	ENST00000600128.1	-	63	8400	c.7986G>A	c.(7984-7986)ccG>ccA	p.P2662P	FBN3_ENST00000270509.2_Silent_p.P2662P|FBN3_ENST00000601739.1_Silent_p.P2662P			Q75N90	FBN3_HUMAN	fibrillin 3	2662						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTCTTTGTCCGGGGTGTCCT	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		19219	0.0		0.001	False		,,,				2504	0.0					ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(7984-7986)ccG>ccA		fibrillin 3		C		1,4405	2.1+/-5.4	0,1,2202	123.0	127.0	125.0		7986	-2.8	0.0	19	dbSNP_134	125	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous	FBN3	NM_032447.3		0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461		2662/2810	8137034	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8137034C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7986G>A	19.37:g.8137034C>T						FBN3_ENST00000270509.2_Silent_p.P2662P|FBN3_ENST00000601739.1_Silent_p.P2662P	p.P2662P			Q75N90	FBN3_HUMAN			63	8400	-			2662					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.7986G>A	CCDS12196.1																																																																																				0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		10	116	0	0	0	1	0	10	116				
NOMO1	23420	broad.mit.edu	37	16	14972641	14972641	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr16:14972641C>G	ENST00000287667.7	+	23	2878	c.2707C>G	c.(2707-2709)Cgt>Ggt	p.R903G		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	903						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGGCCTGTTTCGTTCCAACCT	0.532																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(2707-2709)Cgt>Ggt		NODAL modulator 1							196.0	196.0	196.0					16																	14972641		2197	4300	6497	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14972641C>G	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2707C>G	16.37:g.14972641C>G	ENSP00000287667:p.Arg903Gly						p.R903G	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			23	2878	+			903					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.2707C>G	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	15.97	2.989508	0.53934	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.07021	3.23	3.19	3.19	0.36642	Carbohydrate-binding-like fold (1);	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02698	-1.1122	10	0.48119	T	0.1	-9.9103	12.2724	0.54714	0.0:1.0:0.0:0.0	.	903	Q15155	NOMO1_HUMAN	G	903;903;736	ENSP00000287667:R903G	ENSP00000287667:R903G	R	+	1	0	NOMO1	14880142	1.000000	0.71417	0.998000	0.56505	0.413000	0.31143	7.439000	0.80444	1.785000	0.52413	0.398000	0.26397	CGT		0.532	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			16	107	0	0	0	1	0	16	107				
BTNL8	79908	broad.mit.edu	37	5	180377516	180377516	+	Missense_Mutation	SNP	C	C	T	rs200621852		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr5:180377516C>T	ENST00000340184.4	+	8	1681	c.1475C>T	c.(1474-1476)aCg>aTg	p.T492M	BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.T367M|BTNL8_ENST00000533815.2_Missense_Mutation_p.T308M|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.T376M|BTNL8_ENST00000505126.1_Missense_Mutation_p.T285M	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	492					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGCAACCACGCCCTTCCTC	0.532													c|||	1	0.000199681	0.0	0.0	5008	,	,		16550	0.0		0.001	False		,,,				2504	0.0					ENST00000340184.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1474-1476)aCg>aTg		butyrophilin-like 8		C	MET/THR,MET/THR,,MET/THR,MET/THR,	0,3768		0,0,1884	62.0	53.0	56.0		1475,1127,,1100,923,	-0.7	0.0	5		56	2,7566		0,2,3782	yes	missense,missense,utr-3,missense,missense,utr-3	BTNL8	NM_001040462.2,NM_001159707.1,NM_001159708.1,NM_001159709.1,NM_001159710.1,NM_024850.2	81,81,,81,81,	0,2,5666	TT,TC,CC		0.0264,0.0,0.0176	probably-damaging,probably-damaging,,probably-damaging,probably-damaging,	492/501,376/385,,367/376,308/317,	180377516	2,11334	1884	3784	5668	SO:0001583	missense	79908					integral to membrane		g.chr5:180377516C>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1475C>T	5.37:g.180377516C>T	ENSP00000342197:p.Thr492Met					BTNL8_ENST00000533815.2_Missense_Mutation_p.T308M|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.T285M|BTNL8_ENST00000400707.3_Missense_Mutation_p.T367M|BTNL8_ENST00000511704.1_Missense_Mutation_p.T376M|BTNL8_ENST00000508408.1_3'UTR	p.T492M	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1681	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	492					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.1475C>T	CCDS43413.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.756	-0.488115	0.04352	0.0	2.64E-4	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.61392	1.28;0.59;0.56;0.11;0.17	1.28	-0.684	0.11331	.	.	.	.	.	T	0.28566	0.0707	N	0.08118	0	0.09310	N	1	B;B;B	0.29232	0.238;0.238;0.238	B;B;B	0.12156	0.007;0.007;0.007	T	0.10109	-1.0644	9	0.45353	T	0.12	.	3.9091	0.09196	0.0:0.5228:0.0:0.4772	.	367;376;492	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	M	492;367;376;285;308	ENSP00000342197:T492M;ENSP00000383543:T367M;ENSP00000425207:T376M;ENSP00000427441:T285M;ENSP00000435098:T308M	ENSP00000342197:T492M	T	+	2	0	BTNL8	180310122	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.915000	0.04033	-0.259000	0.09432	-0.465000	0.05216	ACG		0.532	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		11	37	0	0	0	1	0	11	37				
OR5A1	219982	broad.mit.edu	37	11	59211157	59211157	+	Silent	SNP	C	C	T	rs150991894	byFrequency	TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr11:59211157C>T	ENST00000302030.2	+	1	541	c.516C>T	c.(514-516)tgC>tgT	p.C172C		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C172C(2)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTCACTTTTGCGGACCCAACA	0.547																																						ENST00000302030.2																			2	Substitution - coding silent(2)	p.C172C(2)	prostate(1)|endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(514-516)tgC>tgT		olfactory receptor, family 5, subfamily A, member 1		C		0,4402		0,0,2201	261.0	254.0	256.0		516	-5.9	0.4	11	dbSNP_134	256	3,8587	3.0+/-9.4	0,3,4292	no	coding-synonymous	OR5A1	NM_001004728.1		0,3,6493	TT,TC,CC		0.0349,0.0,0.0231		172/316	59211157	3,12989	2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211157C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.516C>T	11.37:g.59211157C>T							p.C172C	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	541	+			172					B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.516C>T	CCDS31561.1																																																																																				0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		4	253	0	0	0	1	0	4	253				
CACNA2D1	781	broad.mit.edu	37	7	81667507	81667507	+	Silent	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:81667507G>A	ENST00000356253.5	-	11	1179	c.924C>T	c.(922-924)gtC>gtT	p.V308V	CACNA2D1_ENST00000356860.3_Silent_p.V308V			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	308	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CATTTGCTTGGACAAGGTGCT	0.313																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(922-924)gtC>gtT		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						118.0	117.0	118.0					7																	81667507		2203	4300	6503	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81667507G>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.924C>T	7.37:g.81667507G>A						CACNA2D1_ENST00000356253.5_Silent_p.V308V	p.V308V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			11	1262	-			308			VWFA.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.924C>T																																																																																					0.313	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				4	86	0	0	0	1	0	4	86				
GNAZ	2781	broad.mit.edu	37	22	23437931	23437931	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr22:23437931C>G	ENST00000248996.4	+	2	715	c.49C>G	c.(49-51)Cgg>Ggg	p.R17G	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	17					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCGGCGGTCCCGGAGAATTGA	0.637																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(49-51)Cgg>Ggg		guanine nucleotide binding protein (G protein), alpha z polypeptide							31.0	34.0	33.0					22																	23437931		2202	4299	6501	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23437931C>G		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.49C>G	22.37:g.23437931C>G	ENSP00000248996:p.Arg17Gly					RTDR1_ENST00000216036.4_Intron	p.R17G	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	715	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		17					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.49C>G	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827482	0.71143	.	.	ENSG00000128266	ENST00000248996	D	0.88741	-2.42	5.05	0.111	0.14619	.	0.000000	0.85682	D	0.000000	D	0.85331	0.5672	M	0.71920	2.185	0.50313	D	0.999863	B	0.26195	0.144	B	0.21708	0.036	T	0.80162	-0.1497	10	0.87932	D	0	.	8.8011	0.34909	0.3727:0.5568:0.0:0.0705	.	17	P19086	GNAZ_HUMAN	G	17	ENSP00000248996:R17G	ENSP00000248996:R17G	R	+	1	2	GNAZ	21767931	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.056000	0.41355	0.235000	0.21160	0.655000	0.94253	CGG		0.637	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		8	44	0	0	0	1	0	8	44				
WDR78	79819	broad.mit.edu	37	1	67299306	67299306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr1:67299306G>A	ENST00000371026.3	-	13	2030	c.1975C>T	c.(1975-1977)Cga>Tga	p.R659*	WDR78_ENST00000431318.1_Nonsense_Mutation_p.R405*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	659					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GGAGCCTGTCGAGATATCAAA	0.338																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1975-1977)Cga>Tga		WD repeat domain 78							157.0	160.0	159.0					1																	67299306		2203	4300	6503	SO:0001587	stop_gained	79819							g.chr1:67299306G>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1975C>T	1.37:g.67299306G>A	ENSP00000360065:p.Arg659*					WDR78_ENST00000431318.1_Nonsense_Mutation_p.R405*	p.R659*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			13	2030	-			659					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Nonsense_Mutation	SNP	ENST00000371026.3	37	c.1975C>T	CCDS635.1	.	.	.	.	.	.	.	.	.	.	G	43	10.049630	0.99325	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	.	.	.	5.84	4.92	0.64577	.	0.409238	0.25968	N	0.027153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.3877	16.4721	0.84114	0.0:0.0:0.8678:0.1322	.	.	.	.	X	659;405;425	.	ENSP00000360065:R659X	R	-	1	2	WDR78	67071894	0.925000	0.31364	0.998000	0.56505	0.185000	0.23345	2.922000	0.48860	1.472000	0.48140	-0.152000	0.13540	CGA		0.338	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		4	41	0	0	0	1	0	4	41				
PIEZO2	63895	broad.mit.edu	37	18	10696535	10696535	+	Missense_Mutation	SNP	G	G	A	rs376551561		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr18:10696535G>A	ENST00000503781.3	-	42	6490	c.6491C>T	c.(6490-6492)aCg>aTg	p.T2164M	PIEZO2_ENST00000302079.6_Missense_Mutation_p.T2164M|PIEZO2_ENST00000538948.1_Missense_Mutation_p.T121M|PIEZO2_ENST00000580640.1_Missense_Mutation_p.T2189M|PIEZO2_ENST00000285141.4_Missense_Mutation_p.T19M	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2164					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GATCTCCAGCGTCCTGCAAAA	0.527																																						ENST00000302079.6																			0											c.(6490-6492)aCg>aTg		piezo-type mechanosensitive ion channel component 2		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	109.0	103.0	105.0		6491	5.2	1.0	18		105	0,8600		0,0,4300	no	missense	PIEZO2	NM_022068.2	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	2164/2753	10696535	2,13004	2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10696535G>A	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6491C>T	18.37:g.10696535G>A	ENSP00000421377:p.Thr2164Met					PIEZO2_ENST00000538948.1_Missense_Mutation_p.T121M|PIEZO2_ENST00000285141.4_Missense_Mutation_p.T19M|PIEZO2_ENST00000503781.3_Missense_Mutation_p.T2164M|PIEZO2_ENST00000580640.1_Missense_Mutation_p.T2189M	p.T2164M			Q9H5I5	PIEZ2_HUMAN			42	6490	-			2164					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.6491C>T		.	.	.	.	.	.	.	.	.	.	G	14.34	2.504997	0.44558	4.54E-4	0.0	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T;T	0.32988	1.43;1.43;1.43	5.21	5.21	0.72293	.	1.663380	0.03062	N	0.155988	T	0.34250	0.0891	L	0.40543	1.245	0.37134	D	0.901408	D	0.57899	0.981	B	0.44163	0.443	T	0.18493	-1.0335	10	0.34782	T	0.22	.	12.1448	0.54018	0.0783:0.0:0.9217:0.0	.	121	D6RFZ0	.	M	121;2164;121;19	ENSP00000303316:T2164M;ENSP00000443129:T121M;ENSP00000285141:T19M	ENSP00000285141:T19M	T	-	2	0	FAM38B	10686535	0.998000	0.40836	1.000000	0.80357	0.437000	0.31866	3.224000	0.51238	2.436000	0.82500	0.655000	0.94253	ACG		0.527	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		3	32	0	0	0	1	0	3	32				
CSAG4	100130935	broad.mit.edu	37	X	151896231	151896231	+	RNA	SNP	A	A	G			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chrX:151896231A>G	ENST00000361201.4	-	0	499					NR_073432.1				CSAG family, member 4 (pseudogene)											endometrium(2)|kidney(2)|lung(1)	5						GAGTGGCTGGATAGTGTTGGC	0.517																																						ENST00000361201.4																			0				endometrium(2)|kidney(2)|lung(1)	5																																														0							g.chrX:151896231A>G	BC013171		Xq28	2014-01-21	2012-04-19		ENSG00000242599	ENSG00000242599			20923	pseudogene	pseudogene			"""CSAG family, member 4"""				Standard	NR_073432		Approved				OTTHUMG00000022646		X.37:g.151896231A>G								NR_073432.1						0	499	-									RNA	SNP	ENST00000361201.4	37																																																																																						0.517	CSAG4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058758.2			5	19	0	0	0	1	0	5	19				
GPR142	350383	broad.mit.edu	37	17	72368116	72368116	+	Missense_Mutation	SNP	C	C	T	rs149042051	byFrequency	TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr17:72368116C>T	ENST00000335666.4	+	4	814	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	256						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R256C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACGGTTGACCGCTACACTGC	0.687																																						ENST00000335666.4																			1	Substitution - Missense(1)	p.R256C(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(766-768)Cgc>Tgc		G protein-coupled receptor 142		C	CYS/ARG	0,4406		0,0,2203	75.0	57.0	63.0		766	5.0	1.0	17	dbSNP_134	63	16,8584	11.9+/-42.8	0,16,4284	yes	missense	GPR142	NM_181790.1	180	0,16,6487	TT,TC,CC		0.186,0.0,0.123	probably-damaging	256/463	72368116	16,12990	2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368116C>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.766C>T	17.37:g.72368116C>T	ENSP00000335158:p.Arg256Cys						p.R256C	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			4	814	+			256					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.766C>T	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599923	0.66332	0.0	0.00186	ENSG00000257008	ENST00000335666	D	0.97186	-4.28	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99364	1.0918	10	0.87932	D	0	-31.3331	18.8605	0.92270	0.0:1.0:0.0:0.0	.	256;1218	Q7Z601;Q8NGB0	GP142_HUMAN;.	C	256	ENSP00000335158:R256C	ENSP00000335158:R256C	R	+	1	0	GPR142	69879711	1.000000	0.71417	0.998000	0.56505	0.141000	0.21300	4.541000	0.60670	2.708000	0.92522	0.650000	0.86243	CGC		0.687	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		6	29	0	0	0	1	0	6	29				
KCNA7	3743	broad.mit.edu	37	19	49573832	49573832	+	Missense_Mutation	SNP	G	G	A	rs143607148		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr19:49573832G>A	ENST00000221444.1	-	2	1214	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	287					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	TTGAAGATGCGGAAGACACGC	0.617																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(859-861)Cgc>Tgc		potassium voltage-gated channel, shaker-related subfamily, member 7		G	CYS/ARG	0,4406		0,0,2203	78.0	74.0	75.0		859	4.5	1.0	19	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNA7	NM_031886.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	287/457	49573832	1,13005	2203	4300	6503	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573832G>A	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.859C>T	19.37:g.49573832G>A	ENSP00000221444:p.Arg287Cys						p.R287C	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1214	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	287					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.859C>T	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.920939	0.73213	0.0	1.16E-4	ENSG00000104848	ENST00000221444	D	0.98849	-5.18	4.54	4.54	0.55810	Ion transport (1);	0.052772	0.64402	D	0.000001	D	0.99560	0.9842	H	0.99859	4.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97448	1.0026	10	0.87932	D	0	.	12.2451	0.54566	0.0:0.0:0.829:0.171	.	287	Q96RP8	KCNA7_HUMAN	C	287	ENSP00000221444:R287C	ENSP00000221444:R287C	R	-	1	0	KCNA7	54265644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.249000	0.43169	2.264000	0.75181	0.491000	0.48974	CGC		0.617	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		4	48	0	0	0	1	0	4	48				
PLA2G4F	255189	broad.mit.edu	37	15	42446617	42446617	+	Missense_Mutation	SNP	G	G	A	rs537149710		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr15:42446617G>A	ENST00000382396.4	-	3	310	c.224C>T	c.(223-225)aCg>aTg	p.T75M	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.T75M			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	75	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGGGGACGCCGTGGGCAGCCA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		18245	0.001		0.0	False		,,,				2504	0.0					ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(223-225)aCg>aTg		phospholipase A2, group IVF							46.0	40.0	42.0					15																	42446617		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42446617G>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.224C>T	15.37:g.42446617G>A	ENSP00000371833:p.Thr75Met					PLA2G4F_ENST00000382396.4_Missense_Mutation_p.T75M	p.T75M	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	3	315	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	75			C2.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.224C>T	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763469	0.89932	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.63913	-0.07;-0.07	5.4	5.4	0.78164	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.084010	0.49305	D	0.000141	D	0.82360	0.5020	M	0.87827	2.91	0.43271	D	0.995221	D	0.89917	1.0	D	0.75484	0.986	D	0.85121	0.0969	10	0.87932	D	0	-11.9275	18.321	0.90238	0.0:0.0:1.0:0.0	.	75	Q68DD2	PA24F_HUMAN	M	71;75;75;75;75	ENSP00000380442:T75M;ENSP00000371833:T75M	ENSP00000290497:T71M	T	-	2	0	PLA2G4F	40233909	1.000000	0.71417	0.959000	0.39883	0.950000	0.60333	7.066000	0.76734	2.717000	0.92951	0.650000	0.86243	ACG		0.587	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		3	32	0	0	0	1	0	3	32				
AKAP17A	8227	broad.mit.edu	37	X	1712837	1712837	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chrX:1712837T>A	ENST00000313871.3	+	2	678	c.482T>A	c.(481-483)cTg>cAg	p.L161Q	AKAP17A_ENST00000381261.3_Missense_Mutation_p.L161Q	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	161	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGGTTCGCCCTGAAGGAGTCG	0.642																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(481-483)cTg>cAg		A kinase (PRKA) anchor protein 17A							110.0	114.0	113.0					X																	1712837		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712837T>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.482T>A	X.37:g.1712837T>A	ENSP00000324827:p.Leu161Gln					AKAP17A_ENST00000381261.3_Missense_Mutation_p.L161Q	p.L161Q	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			2	678	+			161			RRM.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.482T>A	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	t	0.008	-1.866375	0.00547	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.35236	1.32;1.32	2.04	-2.63	0.06133	.	0.539313	0.17269	U	0.180441	T	0.13841	0.0335	.	.	.	0.09310	N	1	B;B	0.15930	0.015;0.003	B;B	0.11329	0.004;0.006	T	0.23119	-1.0197	9	0.12430	T	0.62	.	3.7378	0.08517	0.0:0.2149:0.4046:0.3806	.	161;161	Q02040-3;Q02040	.;AK17A_HUMAN	Q	161	ENSP00000324827:L161Q;ENSP00000370660:L161Q	ENSP00000324827:L161Q	L	+	2	0	AKAP17A	1672837	0.033000	0.19621	0.109000	0.21407	0.561000	0.35649	0.029000	0.13666	-0.162000	0.10964	0.084000	0.15446	CTG		0.642	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		23	117	0	0	0	1	0	23	117				
TMPRSS2	7113	broad.mit.edu	37	21	42866285	42866285	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr21:42866285G>C	ENST00000332149.5	-	3	370	c.236C>G	c.(235-237)tCa>tGa	p.S79*	TMPRSS2_ENST00000398585.3_Nonsense_Mutation_p.S116*|TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.S79*|TMPRSS2_ENST00000497881.1_Intron	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	79					positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AATCCTACTTGAGGTGCACAC	0.617			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(346-348)tCa>tGa		transmembrane protease, serine 2							42.0	41.0	41.0					21																	42866285		2203	4300	6503	SO:0001587	stop_gained	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42866285G>C	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.236C>G	21.37:g.42866285G>C	ENSP00000330330:p.Ser79*					TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.S79*|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000332149.5_Nonsense_Mutation_p.S79*	p.S116*	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			3	407	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	79			LDL-receptor class A.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Nonsense_Mutation	SNP	ENST00000332149.5	37	c.347C>G	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362345	0.82353	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093;ENST00000455813	.	.	.	4.72	3.84	0.44239	.	0.530450	0.15730	N	0.247468	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	9.1976	0.37237	0.1017:0.0:0.8983:0.0	.	.	.	.	X	79;116;79;79;79;79	.	ENSP00000330330:S79X	S	-	2	0	TMPRSS2	41788155	0.973000	0.33851	0.955000	0.39395	0.169000	0.22640	1.922000	0.40045	1.114000	0.41781	0.650000	0.86243	TCA		0.617	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			3	18	0	0	0	1	0	3	18				
CNTNAP2	26047	broad.mit.edu	37	7	146829413	146829413	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:146829413C>T	ENST00000361727.3	+	8	1676	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	387					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGGAGGTGCCCGGACGGCTT	0.478										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1159-1161)cCc>cTc		contactin associated protein-like 2							126.0	118.0	121.0					7																	146829413		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829413C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1160C>T	7.37:g.146829413C>T	ENSP00000354778:p.Pro387Leu	HNSCC(39;0.1)					p.P387L	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1676	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	387					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1160C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543774	0.45280	.	.	ENSG00000174469	ENST00000361727	T	0.80653	-1.4	5.7	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.64402	D	0.000010	T	0.80999	0.4732	M	0.84326	2.69	0.80722	D	1	B	0.26002	0.139	B	0.29176	0.099	T	0.80919	-0.1167	10	0.66056	D	0.02	.	9.8543	0.41077	0.0:0.7676:0.1456:0.0868	.	387	Q9UHC6	CNTP2_HUMAN	L	387	ENSP00000354778:P387L	ENSP00000354778:P387L	P	+	2	0	CNTNAP2	146460346	0.990000	0.36364	0.541000	0.28102	0.939000	0.58152	2.935000	0.48963	2.686000	0.91538	0.591000	0.81541	CCC		0.478	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			27	82	0	0	0	1	0	27	82				
CAND2	23066	broad.mit.edu	37	3	12858463	12858463	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr3:12858463G>A	ENST00000456430.2	+	10	2073	c.2032G>A	c.(2032-2034)Gcc>Acc	p.A678T	CAND2_ENST00000295989.5_Missense_Mutation_p.A585T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	678					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCCCTGGACGCCCTGGCCCA	0.667																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2032-2034)Gcc>Acc		cullin-associated and neddylation-dissociated 2 (putative)							23.0	25.0	24.0					3																	12858463		2027	4188	6215	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858463G>A		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2032G>A	3.37:g.12858463G>A	ENSP00000387641:p.Ala678Thr					CAND2_ENST00000295989.5_Missense_Mutation_p.A585T	p.A678T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			10	2073	+			678					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.2032G>A	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	3.125	-0.179672	0.06380	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.46451	0.87;0.87	4.95	4.06	0.47325	Armadillo-like helical (1);Armadillo-type fold (1);	0.399765	0.24662	N	0.036623	T	0.35711	0.0941	N	0.04820	-0.15	0.80722	D	1	B;D	0.89917	0.403;1.0	B;D	0.79108	0.042;0.992	T	0.08310	-1.0728	10	0.08837	T	0.75	-9.7504	10.6619	0.45706	0.0943:0.0:0.9057:0.0	.	678;585	O75155;O75155-2	CAND2_HUMAN;.	T	585;678	ENSP00000295989:A585T;ENSP00000387641:A678T	ENSP00000295989:A585T	A	+	1	0	CAND2	12833463	0.338000	0.24775	0.563000	0.28383	0.855000	0.48748	1.951000	0.40333	2.456000	0.83038	0.561000	0.74099	GCC		0.667	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		6	42	0	0	0	1	0	6	42				
SDK1	221935	broad.mit.edu	37	7	4088996	4088996	+	Silent	SNP	G	G	A	rs146784103	byFrequency	TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:4088996G>A	ENST00000404826.2	+	18	2758	c.2619G>A	c.(2617-2619)ccG>ccA	p.P873P	SDK1_ENST00000389531.3_Silent_p.P873P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	873	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCGCGCCCCCGCAGAACGTGC	0.567																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2617-2619)ccG>ccA		sidekick cell adhesion molecule 1		G		1,4405	2.1+/-5.4	0,1,2202	68.0	61.0	63.0		2619	-10.3	0.1	7	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous	SDK1	NM_152744.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		873/2214	4088996	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4088996G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2619G>A	7.37:g.4088996G>A						SDK1_ENST00000389531.3_Silent_p.P873P	p.P873P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	18	2758	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	873			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.2619G>A	CCDS34590.1																																																																																				0.567	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		3	32	0	0	0	1	0	3	32				
MTTP	4547	broad.mit.edu	37	4	100543849	100543849	+	Silent	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr4:100543849G>A	ENST00000265517.5	+	18	2732	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K	MTTP_ENST00000457717.1_Silent_p.K843K|MTTP_ENST00000511045.1_Silent_p.K870K|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	843					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TTGAGAAAAAGTACGAAAGGC	0.418																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2527-2529)aaG>aaA		microsomal triglyceride transfer protein	Hesperetin(DB01094)						118.0	116.0	117.0					4																	100543849		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100543849G>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2529G>A	4.37:g.100543849G>A						MTTP_ENST00000511045.1_Silent_p.K870K|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.K843K	p.K843K	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	19	2785	+			843					A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.2529G>A	CCDS3651.1																																																																																				0.418	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			13	46	0	0	0	1	0	13	46				
APC	324	broad.mit.edu	37	5	112175949	112175949	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr5:112175949C>T	ENST00000457016.1	+	16	5038	c.4658C>T	c.(4657-4659)gCa>gTa	p.A1553V	APC_ENST00000508376.2_Missense_Mutation_p.A1553V|APC_ENST00000257430.4_Missense_Mutation_p.A1553V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1553	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAGAAAGAGGCAGAAAAAACT	0.343		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4657-4659)gCa>gTa		adenomatous polyposis coli							79.0	86.0	84.0					5																	112175949		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175949C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4658C>T	5.37:g.112175949C>T	ENSP00000413133:p.Ala1553Val	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A1553V|APC_ENST00000508376.2_Missense_Mutation_p.A1553V	p.A1553V			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5038	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1553			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4658C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	3.414	-0.119508	0.06838	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89746	-2.56;-2.56;-2.56	6.16	-1.65	0.08291	.	1.103820	0.06567	N	0.747730	D	0.83644	0.5299	L	0.54323	1.7	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.63633	-0.6593	9	.	.	.	0.2031	5.567	0.17177	0.2197:0.2962:0.0:0.4841	.	1555;1553	Q4LE70;P25054	.;APC_HUMAN	V	1553	ENSP00000413133:A1553V;ENSP00000257430:A1553V;ENSP00000427089:A1553V	.	A	+	2	0	APC	112203848	0.000000	0.05858	0.001000	0.08648	0.501000	0.33797	-0.086000	0.11233	-0.700000	0.05070	-0.143000	0.13931	GCA		0.343	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		13	67	0	0	0	1	0	13	67				
KCNH7	90134	broad.mit.edu	37	2	163292035	163292035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr2:163292035G>A	ENST00000332142.5	-	8	1726	c.1627C>T	c.(1627-1629)Cga>Tga	p.R543*	KCNH7_ENST00000328032.4_Nonsense_Mutation_p.R536*	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	543					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCTGAATATCGATCCAGTTTC	0.453																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1627-1629)Cga>Tga		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						75.0	72.0	73.0					2																	163292035		2203	4300	6503	SO:0001587	stop_gained	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163292035G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1627C>T	2.37:g.163292035G>A	ENSP00000331727:p.Arg543*					KCNH7_ENST00000328032.4_Nonsense_Mutation_p.R536*	p.R543*	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			8	1726	-			543					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Nonsense_Mutation	SNP	ENST00000332142.5	37	c.1627C>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	38	6.908884	0.97928	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	.	.	.	6.16	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6015	0.62022	0.0:0.0:0.5794:0.4206	.	.	.	.	X	543;536	.	ENSP00000333781:R536X	R	-	1	2	KCNH7	163000281	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.281000	0.65609	1.580000	0.49851	0.650000	0.86243	CGA		0.453	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		13	48	0	0	0	1	0	13	48				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	39	0	0	0	1	0	3	39				
PCDHA12	56137	broad.mit.edu	37	5	140257255	140257255	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr5:140257255C>T	ENST00000398631.2	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	733					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGGTGCGCGCCGGGCAAG	0.677																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(2197-2199)gCg>gTg									27.0	27.0	27.0					5																	140257255		2201	4298	6499	SO:0001583	missense	0							g.chr5:140257255C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2198C>T	5.37:g.140257255C>T	ENSP00000381628:p.Ala733Val					PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	p.A733V	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2198	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.2198C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.035977	0.19590	.	.	ENSG00000251664	ENST00000398631	T	0.12672	2.66	4.88	1.9	0.25705	.	.	.	.	.	T	0.11110	0.0271	L	0.39898	1.24	0.09310	N	1	B;B	0.15141	0.012;0.003	B;B	0.10450	0.005;0.002	T	0.35276	-0.9795	9	0.20519	T	0.43	.	9.4973	0.38995	0.0:0.3067:0.547:0.1463	.	733;733	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	733	ENSP00000381628:A733V	ENSP00000381628:A733V	A	+	2	0	PCDHA12	140237439	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	0.439000	0.26476	-0.165000	0.13383	GCG		0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		8	24	0	0	0	1	0	8	24				
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr1:154842199_154842200insGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGC	c.(241-243)cca>cAGCca	p.80_81insQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																						ENST00000271915.3																			2	Insertion - In frame(2)	p.Q80_P81insQQ(2)	prostate(2)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(241-243)acc>AGCacc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001652	inframe_insertion	3782					integral to membrane	calmodulin binding	g.chr1:154842199_154842200insGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.239_241dupAGC	1.37:g.154842206_154842208dupGCT	ENSP00000271915:p.Gln80_Gln80dup						p.80_81insS	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	556_557	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	c.241_242insAGC	CCDS30880.1																																																																																				0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		7	5						7	5	---	---	---	---
DLL1	28514	broad.mit.edu	37	6	170598843	170598844	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr6:170598843_170598844insA	ENST00000366756.3	-	2	440_441	c.107_108insT	c.(106-108)aagfs	p.K36fs	FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	36					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CCAGCAGCCCCTTCTTGTTGAC	0.703																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(106-108)aggfs		delta-like 1 (Drosophila)																																				SO:0001589	frameshift_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170598843_170598844insA	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.107_108insT	6.37:g.170598843_170598844insA	ENSP00000355718:p.Lys36fs						p.R36fs	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	2	440_441	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	36					B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Frame_Shift_Ins	INS	ENST00000366756.3	37	c.107_108insT	CCDS5313.1																																																																																				0.703	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			2	4						2	4	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs25559|rs10665556	byFrequency	TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351														3178	0.634585	0.7088	0.611	5008	,	,		12379	0.8274		0.4284	False		,,,				2504	0.5644					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269189_31269190insATCAT																													12.37:g.31269189_31269190insATCAT														0	165	-									RNA	INS	ENST00000542490.1	37																																																																																						0.351	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			5	5						5	5	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133252018	133252037	+	Frame_Shift_Del	DEL	TGTACTCCCCCTGGCTGTCC	TGTACTCCCCCTGGCTGTCC	-	rs546499094|rs371717068		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr12:133252018_133252037delTGTACTCCCCCTGGCTGTCC	ENST00000320574.5	-	12	1216_1235	c.1173_1192delGGACAGCCAGGGGGAGTACA	c.(1171-1194)aaggacagccagggggagtacaagfs	p.KDSQGEYK391fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.KDSQGEYK364fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	391					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGGGGCGCCTTGTACTCCCCCTGGCTGTCCTTCTGGAAGC	0.609								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(1171-1194)aaagfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133252018_133252037delTGTACTCCCCCTGGCTGTCC		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1173_1192delGGACAGCCAGGGGGAGTACA	12.37:g.133252018_133252037delTGTACTCCCCCTGGCTGTCC	ENSP00000322570:p.Lys391fs					POLE_ENST00000535270.1_Frame_Shift_Del_p.KDSQGEYK364fs	p.KDSQGEYK391fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	12	1216_1235	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	391					Q13533|Q86VH9	Frame_Shift_Del	DEL	ENST00000320574.5	37	c.1173_1192delGGACAGCCAGGGGGAGTACA	CCDS9278.1																																																																																				0.609	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		9	85						9	85	---	---	---	---
ZNF276	92822	broad.mit.edu	37	16	89789741	89789746	+	In_Frame_Del	DEL	CGGGGC	CGGGGC	-	rs146286473|rs141829086		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr16:89789741_89789746delCGGGGC	ENST00000443381.2	+	4	727_732	c.630_635delCGGGGC	c.(628-636)tgcggggcc>tgc	p.GA211del	ZNF276_ENST00000446326.2_In_Frame_Del_p.GP8del|ZNF276_ENST00000289816.5_In_Frame_Del_p.GA136del|ZNF276_ENST00000568064.1_In_Frame_Del_p.GP130del|VPS9D1_ENST00000389386.3_5'Flank	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CGGCCAGCTGCGGGGCCCTGCCCCAC	0.631																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(403-411)tgc>tg		zinc finger protein 276																																				SO:0001651	inframe_deletion	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789741_89789746delCGGGGC	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.630_635delCGGGGC	16.37:g.89789741_89789746delCGGGGC	ENSP00000415836:p.Gly211_Ala212del					ZNF276_ENST00000443381.2_In_Frame_Del_p.CGA210del|ZNF276_ENST00000446326.2_In_Frame_Del_p.AGP7del|ZNF276_ENST00000568064.1_In_Frame_Del_p.AGP129del	p.CGA135del	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	4	717_722	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	210			ZAD.		Q0VGA1|Q2TBE8|Q3B7H7	In_Frame_Del	DEL	ENST00000443381.2	37	c.405_410delCGGGGC	CCDS45554.1																																																																																				0.631	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		8	41						8	41	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40376854	40376856	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr19:40376854_40376856delCTT	ENST00000221347.6	-	24	11573_11575	c.11566_11568delAAG	c.(11566-11568)aagdel	p.K3856del	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3856	VWFD 9. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTTCTGATACTTCTTCTCCAGC	0.655																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(11566-11568)del		Fc fragment of IgG binding protein																																				SO:0001651	inframe_deletion	8857					extracellular region	protein binding	g.chr19:40376854_40376856delCTT	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11566_11568delAAG	19.37:g.40376857_40376859delCTT	ENSP00000221347:p.Lys3856del						p.K3856del	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		24	11573_11575	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3856			VWFD 9.		O95784	In_Frame_Del	DEL	ENST00000221347.6	37	c.11566_11568delAAG	CCDS12546.1																																																																																				0.655	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	9						4	9	---	---	---	---
